F726L (p.Phe726Leu) variant of AR (Androgen receptor)
F726L (p.Phe726Leu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome; Kennedy disease. The record also includes published literature and structural context.
F726L (p.Phe726Leu) variant details
- p.Phe726Leu
- Ensembl rs2147530573
- Pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in a patient with severe hypospadias)
- UniProt: Pathogenic (in a patient with severe hypospadias)
- Structural context available
- Cited in: Screening for mutations in candidate genes for hypospadias. (PMID 10092153)
- Cited in: Androgen receptor defects: historical, clinical, and molecular perspectives. (PMID 7671849)